A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s12883-016-0716-y.pdf
Reference10 articles.
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3. Abicht A, Dusl M, Gallenmuller C, Guergueltcheva V, Schara U, Della Marina A, et al. Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients. Hum Mutat. 2012;33(10):1474–84.
4. Ohno K, Quiram PA, Milone M, Wang HL, Harper MC, Pruitt 2nd JN, et al. Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations. Hum Mol Genet. 1997;6(5):753–66.
5. Rodriguez Cruz PM, Palace J, Ramjattan H, Jayawant S, Robb SA, Beeson D. Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes. Neurology. 2015;85(12):1043–7.
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